Incidental Mutation 'IGL03267:Ddc'
ID 415102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddc
Ensembl Gene ENSMUSG00000020182
Gene Name dopa decarboxylase
Synonyms Aadc, aromatic L-amino acid decarboxylase
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03267
Quality Score
Status
Chromosome 11
Chromosomal Location 11764101-11848144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11826303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 86 (Y86C)
Ref Sequence ENSEMBL: ENSMUSP00000136467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066237] [ENSMUST00000109659] [ENSMUST00000155690] [ENSMUST00000178704]
AlphaFold O88533
Predicted Effect probably damaging
Transcript: ENSMUST00000066237
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068525
Gene: ENSMUSG00000020182
AA Change: Y86C

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 8.2e-173 PFAM
Pfam:Beta_elim_lyase 81 401 2.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109659
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105286
Gene: ENSMUSG00000020182
AA Change: Y86C

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 4.8e-174 PFAM
Pfam:Beta_elim_lyase 82 403 4.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151032
Predicted Effect probably damaging
Transcript: ENSMUST00000155690
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121096
Gene: ENSMUSG00000020182
AA Change: Y86C

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 253 9.1e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178704
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136467
Gene: ENSMUSG00000020182
AA Change: Y86C

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 35 414 8.2e-173 PFAM
Pfam:Beta_elim_lyase 81 401 2.3e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 C T 5: 121,775,412 (GRCm39) R430Q probably benign Het
Arfgef3 T A 10: 18,467,630 (GRCm39) I1857F probably damaging Het
Baat T A 4: 49,490,050 (GRCm39) M345L probably benign Het
Babam1 T G 8: 71,855,708 (GRCm39) probably null Het
Bbs7 A G 3: 36,627,654 (GRCm39) F711S probably damaging Het
Btrc A G 19: 45,507,262 (GRCm39) E458G probably damaging Het
Car6 T C 4: 150,280,503 (GRCm39) probably benign Het
Celsr3 T C 9: 108,713,724 (GRCm39) probably benign Het
Csn2 A G 5: 87,845,930 (GRCm39) V3A possibly damaging Het
Dennd1b A T 1: 138,990,599 (GRCm39) R188* probably null Het
Dnah1 C A 14: 31,008,545 (GRCm39) A2046S probably benign Het
Duxf4 T C 10: 58,071,609 (GRCm39) T202A probably damaging Het
Eif2b4 A T 5: 31,350,003 (GRCm39) S20T possibly damaging Het
Etl4 T A 2: 20,789,993 (GRCm39) C916* probably null Het
Fam78a T C 2: 31,959,679 (GRCm39) I144V probably benign Het
Fcho1 A G 8: 72,164,943 (GRCm39) probably benign Het
Il9r T A 11: 32,141,778 (GRCm39) H320L possibly damaging Het
Kntc1 C T 5: 123,896,543 (GRCm39) T135M probably damaging Het
Lca5l T A 16: 95,960,983 (GRCm39) Q498L probably benign Het
Map4k3 T C 17: 80,971,457 (GRCm39) H70R probably damaging Het
Mrps26 A G 2: 130,406,856 (GRCm39) probably null Het
Or1j20 G T 2: 36,760,513 (GRCm39) A312S probably benign Het
Or4k5 A G 14: 50,386,304 (GRCm39) V9A probably damaging Het
Or8j3b A T 2: 86,204,978 (GRCm39) Y259* probably null Het
Pik3cg C A 12: 32,255,307 (GRCm39) G227C possibly damaging Het
Ptprn2 C T 12: 116,839,964 (GRCm39) Q496* probably null Het
Rif1 T G 2: 51,967,000 (GRCm39) N96K possibly damaging Het
Rreb1 A C 13: 38,116,169 (GRCm39) D1176A probably benign Het
Slc22a30 A G 19: 8,315,322 (GRCm39) I436T probably benign Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Spata31e5 G A 1: 28,816,202 (GRCm39) T610I probably damaging Het
Stab1 A G 14: 30,864,686 (GRCm39) C1950R probably damaging Het
Tns2 T C 15: 102,013,813 (GRCm39) probably null Het
Ttf2 G A 3: 100,852,120 (GRCm39) R1009* probably null Het
Wfdc16 A G 2: 164,480,462 (GRCm39) V11A possibly damaging Het
Zfp367 A G 13: 64,292,097 (GRCm39) probably benign Het
Zfp420 G A 7: 29,574,908 (GRCm39) R376H probably damaging Het
Other mutations in Ddc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Ddc APN 11 11,789,462 (GRCm39) missense probably damaging 1.00
IGL01336:Ddc APN 11 11,796,630 (GRCm39) splice site probably null
IGL02257:Ddc APN 11 11,823,171 (GRCm39) nonsense probably null
IGL02327:Ddc APN 11 11,813,739 (GRCm39) missense probably damaging 0.98
IGL02516:Ddc APN 11 11,779,125 (GRCm39) missense probably damaging 1.00
IGL02616:Ddc APN 11 11,830,645 (GRCm39) utr 5 prime probably benign
IGL02888:Ddc APN 11 11,772,297 (GRCm39) splice site probably benign
R0454:Ddc UTSW 11 11,830,587 (GRCm39) missense possibly damaging 0.88
R1061:Ddc UTSW 11 11,779,132 (GRCm39) missense probably benign 0.00
R1173:Ddc UTSW 11 11,796,634 (GRCm39) critical splice donor site probably null
R1382:Ddc UTSW 11 11,774,856 (GRCm39) missense possibly damaging 0.52
R1549:Ddc UTSW 11 11,796,656 (GRCm39) splice site probably null
R1583:Ddc UTSW 11 11,779,131 (GRCm39) missense probably benign 0.17
R1929:Ddc UTSW 11 11,785,764 (GRCm39) missense probably damaging 1.00
R1970:Ddc UTSW 11 11,765,292 (GRCm39) missense possibly damaging 0.87
R2034:Ddc UTSW 11 11,830,456 (GRCm39) missense probably benign 0.40
R2270:Ddc UTSW 11 11,785,764 (GRCm39) missense probably damaging 1.00
R2272:Ddc UTSW 11 11,785,764 (GRCm39) missense probably damaging 1.00
R4449:Ddc UTSW 11 11,785,802 (GRCm39) missense probably damaging 1.00
R4508:Ddc UTSW 11 11,769,393 (GRCm39) critical splice acceptor site probably null
R4799:Ddc UTSW 11 11,796,632 (GRCm39) splice site probably null
R5307:Ddc UTSW 11 11,826,321 (GRCm39) missense probably damaging 1.00
R6654:Ddc UTSW 11 11,830,452 (GRCm39) missense probably damaging 1.00
R6817:Ddc UTSW 11 11,774,854 (GRCm39) missense probably damaging 1.00
R6918:Ddc UTSW 11 11,769,307 (GRCm39) missense probably damaging 1.00
R7001:Ddc UTSW 11 11,774,870 (GRCm39) critical splice acceptor site probably null
R7784:Ddc UTSW 11 11,789,396 (GRCm39) critical splice donor site probably null
R8435:Ddc UTSW 11 11,814,902 (GRCm39) missense probably damaging 0.97
R8550:Ddc UTSW 11 11,785,743 (GRCm39) missense probably damaging 1.00
R9200:Ddc UTSW 11 11,765,388 (GRCm39) missense possibly damaging 0.81
R9303:Ddc UTSW 11 11,779,132 (GRCm39) missense probably benign 0.00
R9616:Ddc UTSW 11 11,772,288 (GRCm39) nonsense probably null
Z1177:Ddc UTSW 11 11,830,552 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02